I like genetics and 23andMe is a very exciting company to me, so I want to take some time to explain exactly what this news means.

What Is 23andMe?

23andMe offers a consumer-facing genetics test. Pay $200, spit in a tube, wait a few weeks and they will deliver a report on your DNA. Two weeks ago, that report was basically just your genetic ancestry.

You can also download the raw data that 23andMe uses to determine things like your ancestry and (now) your genetic health information. To me, this was the most exciting part of the service because I like raw data. But it takes a certain skill set to work with that data … or even to understand what the data is supposed to mean.

A few years ago, 23andMe would deliver a huge list of what your DNA tells you about your health, including propensities for certain kinds of cancer, diabetes, Alzheimer’s, and a host of other health-based information. But the FDA shut that down over their concerns that consumers were being misled by the health reports.

What 23andMe Offers Now

With the new FDA approval, the health reports are significantly scaled back. 23andMe now delivers health information related to genetic carrier status, physical traits, and wellness.

23andMe Carrier Data

This is the most interesting one to me. The carrier data tells us if we have a genetic variant for a host of recessive genetic conditions. Delivering carrier data doesn’t really give you very much information about your health.

If, for example, you had cystic fibrosis, you would not find out through a personal genetics test. You would know because cystic fibrosis is an awful disease and you have it. However, CF is a genetic disease that people get by having two copies of the recessive gene that causes CF. If you have only one copy of this gene, you don’t have CF, but you are a CF “carrier.”

While carrier data this isn’t as wide-ranging as the early health reports that 23andMe did, the results will be a lot more certain. Keep in mind, however, that many of these gene variants are ancestry-related. For example, the GRHPR gene related to Primary Hyperoxaluria Type 2 is mostly relevant for people with European decent.

This list is formatted as Disease – gene

ARSACS – SACS

Agenesis of the Corpus Callosum with Peripheral Neuropathy – SLC12A6

Autosomal Recessive Polycystic Kidney Disease – PKHD1

Beta Thalassemia and Related Hemoglobinopathies – HBB

Bloom Syndrome – BLM

Congenital Disorder of Glycosylation Type 1a (PMM2-CDG) – PMM2

Cystic Fibrosis – CFTR

D-Bifunctional Protein Deficiency – HSD17B4

Dihydrolipoamide Dehydrogenase Deficiency – DLD

Familial Dysautonomia – IKBKAP

Fanconi Anemia Group C – FANCC

GRACILE Syndrome – BCS1L

Glycogen Storage Disease Type Ia – G6PC

Glycogen Storage Disease Type Ib – SLC37A4

Hereditary Fructose Intolerance – ALDOB

Leigh Syndrome, French Canadian Type – LRPPRC

Limb-Girdle Muscular Dystrophy Type 2D – SGCA

Limb-Girdle Muscular Dystrophy Type 2E – SGCB

Limb-Girdle Muscular Dystrophy Type 2I – FKRP

MCAD Deficiency – ACADM

Maple Syrup Urine Disease Type 1B – BCKDHB

Neuronal Ceroid Lipofuscinosis (CLN5-Related) – CLN5

Neuronal Ceroid Lipofuscinosis (PPT1-Related) – PPT1

Niemann-Pick Disease Type A – SMPD1

Nijmegen Breakage Syndrome – NBN

Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related) – GJB2

Pendred Syndrome and DFNB4 Hearing Loss – SLC26A4

Primary Hyperoxaluria Type 2 – GRHPR

Rhizomelic Chondrodysplasia Punctata Type 1 – PEX7

Sickle Cell Anemia – HBB

Sjögren-Larsson Syndrome – ALDH3A2

Tay-Sachs Disease – HEXA

Tyrosinemia Type I – FAH

Usher Syndrome Type 1F – PCDH15

Usher Syndrome Type 3A – CLRN1

Zellweger Syndrome Spectrum (PEX1-Related) – PEX1

23andMe Traits

This is information about how likely are you to have certain characteristics like hair color, taste, eye color, facial characteristics, etc. This is pretty basic stuff and most is related to hair and facial characteristics.

Reports include:

Asparagus Odor Detection

Back Hair (available for men only)

Bald Spot (available for men only)

Bitter Taste Perception

Cheek Dimples

Cleft Chin

Earlobe Type

Earwax Type

Eye Color

Finger Length Ratio

Freckles

Hair Curliness

Light or Dark Hair

Male Hair Loss (available for men only)

Newborn Hair Amount

Photic Sneeze Reflex

Red Hair

Skin Pigmentation

Sweet Taste Preference

Toe Length Ratio

Unibrow

Widow’s Peak

23andMe Wellness Reports

This is genetic predisposition toward certain traits. This kind of “predisposition” report is actually what made up the majority of the previous health reports, but the FDA didn’t like 23andMe telling people they were predisposed to dying, so the wellness information here focuses on things that don’t make you die.

Reports include:

caffeine consumption

lactose intolerance

alcohol flush syndrome

muscle composition

Wait, So Why Was the FDA Upset?

This last point is a bit of a teaser. The details of why the FDA took 23andMe’s health information offline as well as why that decision was a compromise is mixed news for both the world of personal genetics and consumer health in general. Look for a Part II 23andMe blog post opening up that discussion soon.

Matthias Shapiro is a software engineer, data vis designer, genetics data hobbiest, and technical educator based in Seattle. He tweets under @politicalmath, where he is occasionally right about some things.

2 Responses

i see that this post is from october 2015 and not sure if it is still active ?i am waiting for my 23 and me report to arrive it’s been about 3 weeks since i sent off my "spit".i have a question about the "autosomal recessive disorder" results.i am a carrier of PKU as well as my husband.we have 2 adult children with PKU and a third adult child who is not a carrier and has the "good" gene.i see in your list of the autosomal diseases that you can find in the DNA that PKU is not listed. it falls into the same category as tag-sachs and cystic fibrosis.why doesn’t it show up in the 23andme results ?

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